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CCBE1 (collagen and calcium binding EGF domains 1)

Identity

Alias_symbol (synonym)FLJ30681
KIAA1983
HGNC (Hugo) CCBE1
LocusID (NCBI) 147372
Atlas_Id 51347
Location 18q21.32  [Link to chromosome band 18q21]
Location_base_pair Starts at 57098171 and ends at 57364644 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCBE1 (18q21.32) / HIVEP3 (1p34.2)WDR7 (18q21.31) / CCBE1 (18q21.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CCBE1   29426
Cards
Entrez_Gene (NCBI)CCBE1  147372  collagen and calcium binding EGF domains 1
AliasesHKLLS1
GeneCards (Weizmann)CCBE1
Ensembl hg19 (Hinxton)ENSG00000183287 [Gene_View]  chr18:57098171-57364644 [Contig_View]  CCBE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183287 [Gene_View]  chr18:57098171-57364644 [Contig_View]  CCBE1 [Vega]
ICGC DataPortalENSG00000183287
TCGA cBioPortalCCBE1
AceView (NCBI)CCBE1
Genatlas (Paris)CCBE1
WikiGenes147372
SOURCE (Princeton)CCBE1
Genetics Home Reference (NIH)CCBE1
Genomic and cartography
GoldenPath hg19 (UCSC)CCBE1  -     chr18:57098171-57364644 -  18q21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCBE1  -     18q21.32   [Description]    (hg38-Dec_2013)
EnsemblCCBE1 - 18q21.32 [CytoView hg19]  CCBE1 - 18q21.32 [CytoView hg38]
Mapping of homologs : NCBICCBE1 [Mapview hg19]  CCBE1 [Mapview hg38]
OMIM235510   612753   
Gene and transcription
Genbank (Entrez)AB075863 AF087966 AK055243 AY358347 BC046645
RefSeq transcript (Entrez)NM_133459
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_016990 NT_010966 NW_004929411
Consensus coding sequences : CCDS (NCBI)CCBE1
Cluster EST : UnigeneHs.34333 [ NCBI ]
CGAP (NCI)Hs.34333
Alternative Splicing GalleryENSG00000183287
Gene ExpressionCCBE1 [ NCBI-GEO ]   CCBE1 [ EBI - ARRAY_EXPRESS ]   CCBE1 [ SEEK ]   CCBE1 [ MEM ]
Gene Expression Viewer (FireBrowse)CCBE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)147372
GTEX Portal (Tissue expression)CCBE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXH8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXH8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXH8
Splice isoforms : SwissVarQ6UXH8
PhosPhoSitePlusQ6UXH8
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)Collagen    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS   
Domain families : Pfam (Sanger)Collagen (PF01391)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam01391    pfam07645   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)CCBE1
DMDM Disease mutations147372
Blocks (Seattle)CCBE1
SuperfamilyQ6UXH8
Human Protein AtlasENSG00000183287
Peptide AtlasQ6UXH8
HPRD08703
IPIIPI00152815   IPI00830026   IPI00830123   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXH8
IntAct (EBI)Q6UXH8
FunCoupENSG00000183287
BioGRIDCCBE1
STRING (EMBL)CCBE1
ZODIACCCBE1
Ontologies - Pathways
QuickGOQ6UXH8
Ontology : AmiGOlymphangiogenesis  lymphangiogenesis  protease binding  sprouting angiogenesis  calcium ion binding  protein binding  collagen binding  proteinaceous extracellular matrix  collagen trimer  extracellular space  positive regulation of vascular endothelial growth factor production  positive regulation of endothelial cell migration  positive regulation of protein processing  positive regulation of angiogenesis  venous blood vessel morphogenesis  positive regulation of vascular endothelial growth factor signaling pathway  positive regulation of lymphangiogenesis  
Ontology : EGO-EBIlymphangiogenesis  lymphangiogenesis  protease binding  sprouting angiogenesis  calcium ion binding  protein binding  collagen binding  proteinaceous extracellular matrix  collagen trimer  extracellular space  positive regulation of vascular endothelial growth factor production  positive regulation of endothelial cell migration  positive regulation of protein processing  positive regulation of angiogenesis  venous blood vessel morphogenesis  positive regulation of vascular endothelial growth factor signaling pathway  positive regulation of lymphangiogenesis  
NDEx NetworkCCBE1
Atlas of Cancer Signalling NetworkCCBE1
Wikipedia pathwaysCCBE1
Orthology - Evolution
OrthoDB147372
GeneTree (enSembl)ENSG00000183287
Phylogenetic Trees/Animal Genes : TreeFamCCBE1
HOVERGENQ6UXH8
HOGENOMQ6UXH8
Homologs : HomoloGeneCCBE1
Homology/Alignments : Family Browser (UCSC)CCBE1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCBE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCBE1
dbVarCCBE1
ClinVarCCBE1
1000_GenomesCCBE1 
Exome Variant ServerCCBE1
ExAC (Exome Aggregation Consortium)CCBE1 (select the gene name)
Genetic variants : HAPMAP147372
Genomic Variants (DGV)CCBE1 [DGVbeta]
DECIPHER (Syndromes)18:57098171-57364644  ENSG00000183287
CONAN: Copy Number AnalysisCCBE1 
Mutations
ICGC Data PortalCCBE1 
TCGA Data PortalCCBE1 
Broad Tumor PortalCCBE1
OASIS PortalCCBE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCBE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCBE1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CCBE1
DgiDB (Drug Gene Interaction Database)CCBE1
DoCM (Curated mutations)CCBE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCBE1 (select a term)
intoGenCCBE1
Cancer3DCCBE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM235510    612753   
Orphanet2036   
MedgenCCBE1
Genetic Testing Registry CCBE1
NextProtQ6UXH8 [Medical]
TSGene147372
GENETestsCCBE1
Huge Navigator CCBE1 [HugePedia]
snp3D : Map Gene to Disease147372
BioCentury BCIQCCBE1
ClinGenCCBE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD147372
Chemical/Pharm GKB GenePA134880094
Clinical trialCCBE1
Miscellaneous
canSAR (ICR)CCBE1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCBE1
EVEXCCBE1
GoPubMedCCBE1
iHOPCCBE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:33:01 CET 2016

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